Linked Data
ClinVar Variation Id:
252116
ClinVar RCV Id:
RCV000237207
dbSNP Id:
rs879255076
PubMed:
PMID:20809525
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.11120180dup , CM000681.2:g.11120180dup | GRCh38 |
| NC_000019.9:g.11230856dup , CM000681.1:g.11230856dup | GRCh37 |
| NC_000019.8:g.11091856dup | NCBI36 |
| NG_009060.1:g.35800dup , LRG_274:g.35800dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252444.10:c.2192dup | ENSP00000252444.6:p.Asn731LysfsTer24 | |
| ENST00000559340.2:c.*3dup | ENSP00000453696.2:n.*3dup | |
| ENST00000560467.2:c.1814dup | ENSP00000453513.2:p.Asn605LysfsTer24 | |
| ENST00000558518.6:c.1934dup MANE Select | ENSP00000454071.1:p.Asn645LysfsTer24 | |
| ENST00000252444.9:c.2188dup | ||
| ENST00000455727.6:c.1430dup | ENSP00000397829.2:p.Asn477LysfsTer24 | |
| ENST00000535915.5:c.1811dup | ENSP00000440520.1:p.Asn604LysfsTer24 | |
| ENST00000545707.5:c.1553dup | ENSP00000437639.1:p.Asn518LysfsTer21 | |
| ENST00000557933.5:c.1934dup | ENSP00000453557.1:p.Asn645LysfsTer24 | |
| ENST00000558013.5:c.1934dup | ENSP00000453346.1:p.Asn645LysfsTer24 | |
| ENST00000558518.5:c.1934dup | ENSP00000454071.1:p.Asn645LysfsTer24 | |
| ENST00000559340.1:c.515dup | ||
| NM_000527.4:c.1934dup , LRG_274t1:c.1934dup | NP_000518.1:p.Asn645LysfsTer24 | |
| NM_001195798.1:c.1934dup | NP_001182727.1:p.Asn645LysfsTer24 | |
| NM_001195799.1:c.1811dup | NP_001182728.1:p.Asn604LysfsTer24 | |
| NM_001195800.1:c.1430dup | NP_001182729.1:p.Asn477LysfsTer24 | |
| NM_001195803.1:c.1553dup | NP_001182732.1:p.Asn518LysfsTer21 | |
| XM_011528010.1:c.1934dup | XP_011526312.1:p.Asn645LysfsTer24 | |
| XM_011528011.1:c.1553dup | XP_011526313.1:p.Asn518LysfsTer24 | |
| XR_244074.2:n.1944dup | ||
| XM_011528010.2:c.1934dup | XP_011526312.1:p.Asn645LysfsTer24 | |
| XR_001753685.2:n.2051dup | ||
| XR_001753686.2:n.1911dup | ||
| NM_000527.5:c.1934dup MANE Select | NP_000518.1:p.Asn645LysfsTer24 | |
| NM_001195798.2:c.1934dup | NP_001182727.1:p.Asn645LysfsTer24 | |
| NM_001195799.2:c.1811dup | NP_001182728.1:p.Asn604LysfsTer24 | |
| NM_001195800.2:c.1430dup | NP_001182729.1:p.Asn477LysfsTer24 | |
| NM_001195803.2:c.1553dup | NP_001182732.1:p.Asn518LysfsTer21 |